Here we report a genetically confirmed case of Creutzfeldt-Jakob disease with a prion protein gene codon 180 mutation presenting atypical magnetic resonance imaging findings. The present case exhibited an acute onset and lateralized neurologic signs, and progressive cognitive impairment. No myoclonus or periodic synchronous discharges on electroencephalography were observed. Diffusion-weighted images revealed areas of high signal intensity in the right frontal and temporal cortices at onset that extended to the whole cortex and basal ganglia of the right cerebral hemisphere at 3 months. Although the cerebrospinal fluid (CSF) was initially negative for neuron specific enolase, tau protein, 14-3-3 protein, and abnormal prion protein, the CSF was positive for these brain-derived proteins at 3 months after onset.
Keywords: CJD, Creutzfeldt-Jakob disease; CSF, cerebrospinal fluid; DWI, diffusion weighted imaging; EEG, electroencephalogram; FLAIR, fluid-attenuated inversion recovery; IQ, intelligence quotient; MRI, magnetic resonance imaging; NSE, neuron specific enolase; PSD, periodic synchronous discharges; RT-QUIC, real-time quaking-induced conversion method; SPECT, single photon emission computed tomography; V180I CJD, CJD with the V180I mutation; V180I mutation; WAIS-III, Wechsler Adult Intelligence Scale (third edition); asymmetric cortical abnormalities; cerebrospinal fluid; creutzfeldt-Jakob disease; magnetic resonance imaging.